Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... |
ORPHA:97362 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... |
OMIM:601198 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Neph... |
OMIM:143880 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Gitelman Syndrome |
|
Prolonged QT interval, Polydipsia, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Hypom... |
OMIM:263800 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... |
ORPHA:93101 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... |
OMIM:616629 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... |
OMIM:618061 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Short stature, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Gout, Gr... |
OMIM:232200 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:618348 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... |
ORPHA:320 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... |
ORPHA:427 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Dysplastic corpus callosum, Chronic kidney disease, Ne... |
ORPHA:488627 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr... |
OMIM:614376 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Pancreatitis, Nephrolithi... |
OMIM:232220 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypokalemia, Hypocalc... |
OMIM:612780 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... |
ORPHA:84081 |
East Syndrome |
|
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... |
ORPHA:199343 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Meth... |
OMIM:251000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Short stature, Premature thelarch... |
ORPHA:90795 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... |
ORPHA:95409 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi... |
ORPHA:213 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure, Tubulointers... |
OMIM:232500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Tubulointerstitial nephritis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure... |
OMIM:614582 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... |
OMIM:615382 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia |
OMIM:222100 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Tubulointerstitial fibrosis |
OMIM:263000 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... |
OMIM:616733 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:241200 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Thyroiditis, Hepatitis, Wei... |
ORPHA:139402 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature |
OMIM:616901 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... |
ORPHA:33001 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polyuria, Megacystis, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatr... |
OMIM:125800 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... |
ORPHA:171876 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Short stature, Renal hypoplasia, Hypertension, Hypogonadism |
OMIM:618681 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... |
ORPHA:223 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Hypotension, Postural hypote... |
ORPHA:369873 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal... |
OMIM:619902 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dyspha... |
ORPHA:449285 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh... |
ORPHA:369929 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis... |
ORPHA:330015 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu... |
ORPHA:85138 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Aortic valve st... |
ORPHA:459061 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... |
ORPHA:231632 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis |
OMIM:615996 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis, Short stature |
ORPHA:85285 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... |
ORPHA:251004 |
Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Hypogonadism, Intrauterine growth retardation, Hydronephrosis |
ORPHA:85173 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Hypo... |
ORPHA:90041 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Alkaptonuria |
|
Coronary artery calcification, Elevated urinary homogentisic acid, Nephrolithiasis, Arthritis, De... |
OMIM:203500 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis |
OMIM:615994 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... |
ORPHA:54057 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Prim... |
OMIM:615474 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... |
ORPHA:143 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... |
OMIM:620141 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Rhabdo... |
OMIM:212138 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... |
ORPHA:159 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... |
ORPHA:99880 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr... |
ORPHA:525731 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... |
OMIM:620300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Nephrolithiasis, Stag... |
ORPHA:79259 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... |
ORPHA:91547 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Anorexia, Myocarditis, Hema... |
ORPHA:549 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Ataxia, Myocardial infarction,... |
ORPHA:3452 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... |
ORPHA:188 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... |
ORPHA:49041 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo... |
ORPHA:33475 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Panhypophysitis |
|
Hyponatremia, Decreased serum testosterone concentration, Orthostatic hypotension, Decreased circ... |
ORPHA:95513 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Raynaud phen... |
ORPHA:247691 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis |
ORPHA:474 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Intrauterine growth retardation, Decreased body weight |
OMIM:617564 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Hydroureter, Diabetes insipidus, Hydronephrosis |
OMIM:598500 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... |
ORPHA:1727 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Long penis, Hyperinsulinemia, Hyper... |
ORPHA:508 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Precocious puberty, Insulin-resista... |
ORPHA:769 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Ataxia, Faci... |
ORPHA:31826 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul... |
OMIM:276700 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Agenesis of corpus callosum, Hydronep... |
OMIM:613735 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Jaundic... |
OMIM:274150 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... |
ORPHA:99845 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... |
OMIM:609757 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuricemia,... |
ORPHA:134 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... |
ORPHA:1926 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Failure to thrive, Hydrone... |
OMIM:619218 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Rhyns Syndrome |
|
Renal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Chroni... |
OMIM:602152 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Recurrent pneumonia, Nephrotic... |
OMIM:617303 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... |
ORPHA:100080 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysur... |
ORPHA:3463 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Short stature, Hydronephrosis, Decreased body weight |
OMIM:618265 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Ataxia, Inability to walk, Flexion contractu... |
ORPHA:79243 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Congestive heart failure, We... |
ORPHA:35687 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Fasciitis, Tachycardia, Glomerulonephritis, Recurrent urinary tract i... |
ORPHA:36234 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... |
ORPHA:449400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Dysplastic corpus callosum, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Meth... |
OMIM:604273 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis |
ORPHA:3327 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Rhabdomyolysis, Hypertension, Agitation, Hypotension, Acute kidney injury |
ORPHA:43116 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pu... |
OMIM:220210 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Atrial septal defect, Giant cell hepatitis, Ventricular septal def... |
OMIM:208085 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Elevated circulating growth hormone... |
ORPHA:97287 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Growth delay, Cardiomyopa... |
OMIM:222300 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... |
ORPHA:227990 |
Tetraploidy |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplas... |
ORPHA:3305 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... |
ORPHA:227982 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Pollakisuria, Hypertension, Gait disturbance, Hypotens... |
ORPHA:93256 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100082 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjuncti... |
ORPHA:79128 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... |
ORPHA:881 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neona... |
OMIM:124000 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... |
OMIM:615415 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Sarcoidosis |
|
Heart block, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hy... |
ORPHA:797 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Small intestine c... |
ORPHA:100078 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re... |
OMIM:618347 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Sinusitis, Epista... |
ORPHA:727 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Addictive alcoho... |
ORPHA:36238 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia |
OMIM:617661 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ol... |
ORPHA:90051 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hypoplastic aortic arch, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Scrub Typhus |
|
Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Splenomegaly |
OMIM:102700 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnor... |
ORPHA:3157 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Netherton Syndrome |
|
Skin rash, Eczema, Short stature, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... |
OMIM:209010 |
Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Obesity, Micropenis, Hydronephrosis |
OMIM:619185 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... |
ORPHA:428 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Psoriasiform dermatitis, Shor... |
ORPHA:168569 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... |
ORPHA:182050 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Hypospadias, Small for gestational age, Elevated circ... |
OMIM:301056 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Tubulointerstitial fibrosis |
OMIM:607944 |
Joubert Syndrome 3 |
|
Lateral ventricle dilatation, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Renal hypoplasia, Obesity |
OMIM:600151 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno... |
OMIM:610688 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Increased circulating ... |
ORPHA:100075 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone... |
ORPHA:439822 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney... |
OMIM:218330 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... |
ORPHA:37553 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:537 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... |
OMIM:614034 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Chromosome 5Q12 Deletion Syndrome |
|
Macroglossia, Decreased body mass index, Hypotension |
OMIM:615668 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... |
ORPHA:319213 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev... |
OMIM:620138 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:261494 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Gapo Syndrome |
|
Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Hyperammonemia, Weight loss,... |
ORPHA:20 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Failure to thrive, Elevated ci... |
OMIM:263400 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:466650 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic left atrium, ... |
OMIM:601186 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Failure to thrive, Hydronephrosis |
ORPHA:488613 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... |
ORPHA:99147 |
Poliomyelitis |
|
Skeletal muscle atrophy, Anorexia, Hypoplasia of the musculature, Inability to walk, Abnormal ske... |
ORPHA:2912 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylgl... |
ORPHA:254913 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, ... |
OMIM:619487 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria |
ORPHA:90060 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Dysplastic corpus callosum, Recurrent pneumonia, Failure to thrive, Hydronephrosis |
OMIM:619179 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Intrauterine growth retardati... |
ORPHA:2315 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio... |
ORPHA:73224 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec... |
ORPHA:541423 |
Familial Cold Urticaria |
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Polydipsia |
ORPHA:47045 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Unilateral r... |
ORPHA:2237 |
Kury-Isidor Syndrome |
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Ventricular septal defect, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:208540 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Simple Cryoglobulinemia |
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Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
Congenital Tricuspid Stenosis |
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Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Proportionate short stature, Precocious puberty, Obesity, Growth delay, Periodontitis, Type I dia... |
OMIM:619269 |
Frasier Syndrome |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Even-Plus Syndrome |
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Recurrent urinary tract infections, Severe short stature, Dysplastic corpus callosum, Renal hypop... |
OMIM:616854 |
Aggressive Systemic Mastocytosis |
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Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Weight loss, Hypotension |
ORPHA:98850 |
Alport Syndrome 1, X-Linked |
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Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Axial Mesodermal Dysplasia Spectrum |
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Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Endove Syndrome, Limb-Only Type |
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Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
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Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
9Q21.13 Microdeletion Syndrome |
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Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Small for gestational age, Hypospadias, Cardiomegaly, Micropenis, Intrauterine growth retardation... |
OMIM:616897 |
Toluene Embryopathy |
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Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Suleiman-El-Hattab Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:618950 |
Feingold Syndrome Type 1 |
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Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Multiple mus... |
ORPHA:391641 |
Bardet-Biedl Syndrome 12 |
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Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
Hadziselimovic Syndrome |
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Pulmonary artery atresia, Failure to thrive, Short stature, Renal hypoplasia |
OMIM:612946 |
Complement Factor I Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:276621 |
Distal Triplication 15Q |
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Abnormality of the kidney, Hypoplastic aortic arch, Dilatation of the renal pelvis, Horseshoe kid... |
ORPHA:314588 |
Cardiac Valvular Dysplasia 1 |
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Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pu... |
OMIM:212093 |
Cat Eye Syndrome |
|
Atrial septal defect, Renal agenesis, Ventricular septal defect, Biliary atresia, Horseshoe kidne... |
OMIM:115470 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Adult Acute Respiratory Distress Syndrome |
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Shock, Diabetic ketoacidosis, Vasculitis, Hypotension |
ORPHA:70578 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... |
ORPHA:261290 |
Congenital Disorder Of Glycosylation, Type Iig |
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Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly... |
OMIM:611209 |
Pseudo-Torch Syndrome 2 |
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Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, Ab... |
ORPHA:7 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... |
ORPHA:220393 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... |
OMIM:619428 |
Zttk Syndrome |
|
Aortic regurgitation, Short stature, Polyuria, Unilateral renal agenesis, Dysplastic corpus callo... |
OMIM:617140 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Nod... |
ORPHA:79078 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Bradycardia, Hypotension |
ORPHA:391673 |
Trisomy 13 |
|
Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,... |
ORPHA:3378 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne... |
ORPHA:244242 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Short stature, Renal hypoplasia, Decreased body weight |
OMIM:617926 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Short sta... |
OMIM:146510 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper... |
OMIM:130650 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Large for gestational age, Pulmonic stenosis, Hypertrophic c... |
OMIM:610733 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Goiter |
OMIM:274240 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, ... |
ORPHA:58 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis, Short stature |
ORPHA:364028 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Short stature, Renal hypoplasia, Renal cyst, Colpo... |
OMIM:618460 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Unsteady gait, Knee flexion contracture, Calf... |
OMIM:618733 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Elevated circulating creatinine concent... |
ORPHA:90038 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Elevated circulating creatine kinase concentration, Dysplastic corpus callosum, Unilateral renal ... |
OMIM:619955 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Oliguria, Weight loss |
ORPHA:514 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Primary adrenal insuffici... |
ORPHA:912 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Abnormal re... |
OMIM:609053 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia,... |
OMIM:235255 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Cachexia, Renal ... |
ORPHA:275761 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... |
OMIM:618541 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Impulsivity, Abnormal heart morphology, Abnormality of the urinary system, Aplasia/... |
ORPHA:96092 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena... |
ORPHA:1655 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Failure t... |
OMIM:311900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Congenital Enterovirus Infection |
|
Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension |
ORPHA:292 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Neonatal death, Vesicoureteral reflux,... |
ORPHA:85284 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Umbilical hernia, Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... |
OMIM:613001 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Short stature, Renal hypopl... |
ORPHA:85321 |
Al-Gazali Syndrome |
|
Failure to thrive, Hydronephrosis, Recurrent pneumonia |
OMIM:609465 |
Marburg Hemorrhagic Fever |
|
Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... |
ORPHA:101330 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Tongue thrusting, Choreoathetosis, Athetosis, Hypotension, Limb hypertonia |
OMIM:608643 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... |
OMIM:252500 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Zaki Syndrome |
|
Patent foramen ovale, Renal agenesis, Hydronephrosis |
OMIM:619648 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron... |
ORPHA:2437 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia |
OMIM:615665 |
Mesomelia-Synostoses Syndrome |
|
Short stature, Hydronephrosis |
ORPHA:2496 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Glandular hypospadias, Growth delay, Hydronephrosis, Hypertensive crisis |
ORPHA:1358 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Abnormality of the endocrine system, Pseudohypoparathyroidism, Renal hypoplasia, Obesity,... |
ORPHA:464288 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Polycystic kidney dysplasia, Micropenis, Agenesis of corpus callosum, Renal dyspla... |
OMIM:613091 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Interrupted aortic arch, Vesicoureteral reflux, Intrauterine growth retardation, F... |
ORPHA:250989 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Subconjunctival hemorrhage, Mul... |
ORPHA:464329 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Bicuspid aortic valve, Abnormal cardiac sept... |
ORPHA:96169 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Rhabdomyolys... |
ORPHA:509 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:2484 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin... |
ORPHA:2510 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Dysphagia,... |
OMIM:214100 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Hypotriglycerid... |
ORPHA:2298 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly of finger, Fac... |
ORPHA:261349 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Valvular pulmon... |
OMIM:300707 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:29072 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Hypogonadism, Intrauterine growth retardation, Micro... |
OMIM:612513 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis, D... |
ORPHA:1054 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... |
ORPHA:1225 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal defect, Hydronephrosis |
ORPHA:261344 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Atrial septal defect, Pulmonary arterial hypertension, Hy... |
OMIM:616449 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Pancreatitis, Hyp... |
ORPHA:544482 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... |
ORPHA:99776 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Hyperactivity, Hypospadias, Ventricular septal defect, Abnormal eating beha... |
ORPHA:209905 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... |
ORPHA:1297 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia, Failure to thrive |
ORPHA:2135 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:302960 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... |
OMIM:617914 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney, Seborrheic dermatitis |
ORPHA:276280 |
Joubert Syndrome 5 |
|
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... |
OMIM:610188 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotrans... |
ORPHA:99829 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Eczema, Short stature, Aortic root... |
OMIM:610443 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, P... |
OMIM:201000 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Renal hypoplasia, Hors... |
OMIM:266810 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... |
ORPHA:93552 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Agenesis of corpus callosu... |
OMIM:612651 |
Verheij Syndrome |
|
Small for gestational age, Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth de... |
OMIM:615583 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Lassa Fever |
|
Shock, Conjunctivitis, Oliguria |
ORPHA:99824 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Ect... |
OMIM:235510 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... |
ORPHA:2059 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Abnormal circulat... |
ORPHA:399 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis |
ORPHA:568 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Heart murmur, Intracranial hemorrhage... |
ORPHA:163979 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Nephropathy... |
ORPHA:116 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial occlusion, Abnormal cardiovascular system physiology, Dec... |
ORPHA:289601 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Flexion contracture of finger, Failure to thrive, Hypospadias, Small for ge... |
ORPHA:464311 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Tricuspid regurgitation, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Short stature, Hydronephrosis, Erythroderma |
ORPHA:35173 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, E... |
OMIM:619351 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature |
ORPHA:1307 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... |
OMIM:201750 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia |
OMIM:618975 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Short stature, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Intrauterin... |
ORPHA:94063 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Perianal abscess, Splenomegaly, Urachus fistula... |
OMIM:612541 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Mungan Syndrome |
|
Vesicoureteral reflux, Tricuspid regurgitation, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis |
OMIM:618188 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Meacham Syndrome |
|
Horseshoe kidney, Coarctation of aorta, Right aortic arch, Stillbirth, Neonatal death, Enlarged k... |
OMIM:608978 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... |
ORPHA:314585 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Dysphagia |
ORPHA:101000 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Short stature, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Renal hypoplasia... |
ORPHA:75389 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydronephrosis, Short stature |
ORPHA:85201 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Renal hypoplasia, Renal cyst, Coarctation of aorta, Microphallus, Comp... |
OMIM:618454 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Abnormal mesentery morphology, Functional abnormality of the bla... |
ORPHA:2953 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Hype... |
OMIM:266920 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Agenesis of corpus callosum, Hydronephrosis, Short stature |
ORPHA:96061 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, P... |
OMIM:618653 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Attention deficit hyperactivity disorder, Ureteropelvic junct... |
OMIM:617557 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... |
OMIM:118450 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retarda... |
ORPHA:90324 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis, Mitral valve prolapse |
OMIM:104350 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Agenesis of corpus callosum, Hydronephrosis |
OMIM:243605 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ascending tubular aorta aneurysm, ... |
ORPHA:444072 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Renal hypoplasia, Decreased response to growth hor... |
OMIM:617784 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... |
OMIM:614080 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Atria... |
ORPHA:464738 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Hypocalcemia, Interrupted aortic arch... |
OMIM:300712 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Atrial septal defect, Renal agenesis, Ventricular septal defect, Renal hypopla... |
OMIM:607323 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453499 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H... |
ORPHA:91351 |
Degcags Syndrome |
|
Tachycardia, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilatera... |
OMIM:619488 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Failure to thrive, Multiple joint contractures, Hypospadias, Small for gest... |
ORPHA:464306 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... |
OMIM:613254 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intrauterine growth retardation, Failu... |
ORPHA:2470 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Hypocalcemi... |
OMIM:619991 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... |
OMIM:614527 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis |
ORPHA:1780 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Growth delay, Fai... |
ORPHA:2995 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonic stenosis, Hy... |
OMIM:616737 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp... |
OMIM:617744 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, ... |
ORPHA:96121 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Peripheral pulmonary... |
OMIM:614099 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hyp... |
ORPHA:100079 |
Pelvis-Shoulder Dysplasia |
|
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... |
ORPHA:2839 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Nephrolithiasis,... |
ORPHA:2785 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Perimembranous ventricu... |
OMIM:608104 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... |
OMIM:616580 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia... |
ORPHA:79328 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Abnorma... |
ORPHA:353281 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,... |
OMIM:616258 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:615873 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Annu... |
ORPHA:264450 |
White-Kernohan Syndrome |
|
Hydroureter, Dysplastic corpus callosum, Obesity, Horseshoe kidney, Recurrent otitis media, Hypot... |
OMIM:619426 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Hypoplastic aortic arch, Horseshoe kidney, Coarctatio... |
OMIM:306955 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis, Telangiectasia |
ORPHA:247262 |
Grange Syndrome |
|
Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis, Decreased body weight,... |
OMIM:602531 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Ataxia, Hyperammonemia, Intracranial hemorrhage, Agitation, A... |
ORPHA:90062 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... |
ORPHA:49 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Renal hypoplasia, Aortic valve stenosis, Vesicoureteral reflux, Mitral stenosis |
OMIM:617660 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:301040 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Failure to thrive in infancy, Short stature, Mat... |
ORPHA:96149 |
Focal Dermal Hypoplasia |
|
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Telangiectasia of the skin, Abnormal ... |
ORPHA:2092 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Microp... |
OMIM:270400 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopat... |
OMIM:616541 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elev... |
OMIM:308050 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis |
ORPHA:254528 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Ventricular tachycardia, Supraventricular tachycardia, Intrauter... |
OMIM:300855 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia, Short stature |
OMIM:300968 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal left ventricular function, Premature ... |
ORPHA:391665 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Abnormal heart morphology, Coarctat... |
ORPHA:2745 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... |
OMIM:603909 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Renal hypoplasia... |
OMIM:603467 |
Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re... |
ORPHA:2044 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... |
ORPHA:500095 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Chronic kidney di... |
OMIM:208500 |
Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Chronic otitis medi... |
ORPHA:2750 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Hypertrophic cardiomyopathy, F... |
OMIM:115150 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... |
ORPHA:1896 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... |
ORPHA:363958 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity |
OMIM:620047 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse |
OMIM:305620 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Short stature, Recurr... |
OMIM:251260 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Pericarditis, Juxtaducta... |
ORPHA:3310 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Failure t... |
OMIM:309350 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Failure to thrive in infancy, Pulmonic stenosis, Hypertrophic cardiomyopathy, Hydr... |
ORPHA:1340 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephrit... |
ORPHA:48652 |
Campomelic Dysplasia |
|
Short stature, Hydronephrosis |
ORPHA:140 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Raine Syndrome |
|
Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Violent behavior, Ventricular septal defect, Elevated... |
OMIM:280000 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small for gestational a... |
ORPHA:97360 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph... |
ORPHA:90652 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit... |
ORPHA:2552 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart... |
ORPHA:1606 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... |
OMIM:188400 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Aggressive behavior, Inability to walk, Phonic tics, Congenital hypothyroidis... |
OMIM:616973 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Postnatal growth retardation, Growth delay, Hydronephrosis |
OMIM:257920 |
Trisomy 18 |
|
Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt... |
ORPHA:3380 |
Tarp Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:79126 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Multiple bladder diverticula, Patent foramen ovale, Hydronephrosis, Peripheral ... |
OMIM:613177 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Annular pancreas, Coarctation of aorta, ... |
ORPHA:2308 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Hematuria, Addictive alcohol use |
ORPHA:520 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... |
OMIM:604292 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Functional abnormality of the bladder, Infectious encepha... |
ORPHA:391487 |
Cousin Syndrome |
|
Disproportionate short stature, Rhizomelia, Hydronephrosis |
OMIM:260660 |
Apert Syndrome |
|
Overriding aorta, Acne, Rhizomelic arm shortening, Chronic otitis media, Agenesis of corpus callo... |
OMIM:101200 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Hiatu... |
OMIM:122470 |
Cerebrofacioarticular Syndrome |
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Hypospadias, Short stature, Dysplastic corpus callosum, Renal hypoplasia, Absence of pubertal dev... |
ORPHA:314679 |
Mckusick-Kaufman Syndrome |
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Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Chime Syndrome |
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Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, Transposition of t... |
ORPHA:3474 |
Sickle Cell Anemia |
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Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Dubowitz Syndrome |
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Hypoparathyroidism, Hypospadias, Eczema, Short stature, Postnatal growth retardation, Intrauterin... |
ORPHA:235 |
Autosomal Recessive Robinow Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Fryns Syndrome |
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Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Renal cyst, Stillbi... |
OMIM:229850 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Patent ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Patent ... |
ORPHA:353277 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Hydronephrosis |
OMIM:271520 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short stature, Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Mic... |
OMIM:268310 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... |
ORPHA:363700 |
Acute Lung Injury |
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Shock, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increa... |
ORPHA:178320 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Renal ... |
ORPHA:818 |
Ulnar-Mammary Syndrome |
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Hypoplasia of penis, Short stature, Renal hypoplasia, Obesity, Delayed puberty, Arrhythmia |
ORPHA:3138 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:352665 |
Okamoto Syndrome |
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Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology... |
ORPHA:2729 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
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Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... |
ORPHA:457212 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Hypospadias, Unilateral renal agenesis, Abnormality of the endocrine system, Postnatal growth ret... |
ORPHA:487796 |
Schinzel-Giedion Midface Retraction Syndrome |
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Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Failure to... |
OMIM:269150 |
Syndromic Diarrhea |
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Aortic regurgitation, Hepatomegaly, Small for gestational age, Gastritis, Short stature, Splenome... |
ORPHA:84064 |
Oeis Complex |
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Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Cardiac-Urogenital Syndrome |
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Tachycardia, Penoscrotal hypospadias, Patent urachus, Interrupted aortic arch, Micropenis, Enlarg... |
OMIM:618280 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to growth hormone s... |
OMIM:129900 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Ventricular septal defect,... |
OMIM:619522 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Nephrotic syndrome, Mitral ... |
OMIM:601776 |
Kabuki Syndrome 1 |
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Crossed fused renal ectopia, Short stature, Premature thelarche, Postnatal growth retardation, Mi... |
OMIM:147920 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... |
OMIM:620330 |
Isolated Osteopoikilosis |
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Addictive alcohol use, Abnormality of the kidney, Abnormal heart morphology |
ORPHA:166119 |
Gabriele-De Vries Syndrome |
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Small for gestational age, Decreased response to growth hormone stimulation test, Hypothyroidism,... |
ORPHA:506358 |
Pseudotrisomy 13 Syndrome |
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Renal agenesis, Adrenal hypoplasia, Renal hypoplasia, Coarctation of aorta, Micropenis, Agenesis ... |
OMIM:264480 |
Hand-Foot-Genital Syndrome |
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Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Frontometaphyseal Dysplasia |
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Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology |
ORPHA:1826 |
Floating-Harbor Syndrome |
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Hypospadias, Aggressive behavior, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, ... |
OMIM:136140 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... |
ORPHA:83617 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Nep... |
ORPHA:438213 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the up... |
ORPHA:2273 |
Charge Syndrome |
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Aortic arch aneurysm, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation,... |
ORPHA:138 |
Nail-Patella Syndrome |
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Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... |
ORPHA:3455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Micropenis, Age... |
OMIM:615287 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ... |
ORPHA:798 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Cardiomyopathy,... |
OMIM:312870 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
Autosomal Recessive Cutis Laxa Type 1 |
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Recurrent urinary tract infections, Abnormal cardiac ventricular function, Severe short stature, ... |
ORPHA:90349 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Mesomelia-Synostoses Syndrome |
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Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
Rubinstein-Taybi Syndrome 1 |
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Accessory spleen, Hyperactivity, Hypospadias, Ventricular septal defect, Impulsivity, Self-mutila... |
OMIM:180849 |
Osteogenesis Imperfecta, Type Vii |
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Rhizomelia, Absent pulmonary artery, Short stature, Hydronephrosis |
OMIM:610682 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... |
ORPHA:709 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation, Agenesis of c... |
OMIM:236680 |
Fraser Syndrome 2 |
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Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Scalp-Ear-Nipple Syndrome |
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Renal insufficiency, Short stature, Unilateral renal agenesis, Congestive heart failure, Renal hy... |
OMIM:181270 |
Arboleda-Tham Syndrome |
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Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pul... |
OMIM:616268 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Zygomycosis |
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Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... |
ORPHA:73263 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Diabetes mellitus, Hypospadias, Small for gestational age, Portal hypertension, Ure... |
OMIM:243800 |
Williams-Beuren Syndrome |
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Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... |
OMIM:194050 |
Charge Syndrome |
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Overriding aorta, Renal agenesis, Ventricular septal defect, Pulmonary artery atresia, Secundum a... |
OMIM:214800 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Exstrophy-Epispadias Complex |
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Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Lacrimoauriculodentodigital Syndrome |
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Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, Arthritis, Keratoconjunctivitis sicca, Ve... |
ORPHA:2363 |
Plague |
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Tachycardia, Anorexia, Hematemesis, Unsteady gait, Hypotension, Arrhythmia |
ORPHA:707 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Atrial septal defect, Hypospadias, Abnormality of the ... |
ORPHA:821 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short... |
ORPHA:93271 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Autosomal Dominant Cutis Laxa |
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Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retardation, Congestive heart f... |
ORPHA:90348 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Rhizomelia, Postnatal growth retardation, Renal hypoplasia, Bi... |
OMIM:261540 |
Alpha-Fetoprotein Deficiency |
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Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Campomelic Dysplasia |
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Hypospadias, Neonatal short-limb short stature, Disproportionate short-limb short stature, Failur... |
OMIM:114290 |
Robinow Syndrome, Autosomal Dominant 1 |
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Short stature, Rhizomelia, Right ventricular outlet tract obstruction, Micropenis, Hydronephrosis... |
OMIM:180700 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Partial ag... |
OMIM:135900 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intrauteri... |
OMIM:619321 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261537 |
Igg4-Related Pachymeningitis |
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Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Ventricular septal defect, Dysphagia, Atrial septal defect, Micrope... |
OMIM:606170 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Renal dysplasia, Short stature, Abnormal circulating thyroid hormone concentration, Cardiomyopath... |
ORPHA:480880 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Short stature, Horseshoe kidney, Telangiectasia, Bifid ureter, Agenesis of ... |
OMIM:305600 |
Viss Syndrome |
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Epidural hemorrhage, Ventricular septal defect, Abnormal branching pattern of the aortic arch, Co... |
OMIM:619472 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:2152 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Short stature, Postnatal growth retardation, Stillbirth, Dilatation of the sinus of ... |
OMIM:304120 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Coarctatio... |
OMIM:270100 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Secondary Intestinal Lymphangiectasia |
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Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |